Incidental Mutation 'R5807:Atp5f1b'
ID 448598
Institutional Source Beutler Lab
Gene Symbol Atp5f1b
Ensembl Gene ENSMUSG00000025393
Gene Name ATP synthase F1 subunit beta
Synonyms Atp5b
MMRRC Submission 043393-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5807 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127919176-127926257 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 127924431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026459] [ENSMUST00000045621] [ENSMUST00000219072] [ENSMUST00000217851] [ENSMUST00000170054] [ENSMUST00000220049]
AlphaFold P56480
Predicted Effect probably benign
Transcript: ENSMUST00000026459
SMART Domains Protein: ENSMUSP00000026459
Gene: ENSMUSG00000025393

DomainStartEndE-ValueType
low complexity region 2 38 N/A INTRINSIC
Pfam:ATP-synt_ab_N 63 129 2.9e-23 PFAM
AAA 198 382 1.5e-6 SMART
Pfam:ATP-synt_ab_C 418 527 2.5e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045621
SMART Domains Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054

DomainStartEndE-ValueType
low complexity region 73 82 N/A INTRINSIC
low complexity region 181 192 N/A INTRINSIC
low complexity region 342 353 N/A INTRINSIC
low complexity region 421 475 N/A INTRINSIC
low complexity region 518 529 N/A INTRINSIC
MBD 539 614 3.87e-35 SMART
AT_hook 639 651 2.38e0 SMART
AT_hook 660 672 1.65e0 SMART
low complexity region 697 710 N/A INTRINSIC
coiled coil region 736 776 N/A INTRINSIC
DDT 837 902 3.75e-18 SMART
Pfam:WHIM1 939 988 4.8e-8 PFAM
low complexity region 1001 1013 N/A INTRINSIC
AT_hook 1174 1186 6.23e1 SMART
AT_hook 1388 1400 4.21e0 SMART
Pfam:WHIM3 1423 1464 1e-9 PFAM
PHD 1662 1708 1.47e-11 SMART
low complexity region 1741 1753 N/A INTRINSIC
BROMO 1773 1881 7.71e-41 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082844
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125992
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126040
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127439
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139295
Predicted Effect probably benign
Transcript: ENSMUST00000219072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218772
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219082
Predicted Effect probably benign
Transcript: ENSMUST00000217851
Predicted Effect probably benign
Transcript: ENSMUST00000170054
SMART Domains Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054

DomainStartEndE-ValueType
low complexity region 73 82 N/A INTRINSIC
low complexity region 181 192 N/A INTRINSIC
low complexity region 343 354 N/A INTRINSIC
low complexity region 422 476 N/A INTRINSIC
low complexity region 519 530 N/A INTRINSIC
MBD 540 615 3.87e-35 SMART
AT_hook 640 652 2.38e0 SMART
AT_hook 661 673 1.65e0 SMART
low complexity region 698 711 N/A INTRINSIC
coiled coil region 737 777 N/A INTRINSIC
DDT 838 903 3.75e-18 SMART
Pfam:WHIM1 940 989 4.8e-8 PFAM
low complexity region 1002 1014 N/A INTRINSIC
AT_hook 1175 1187 6.23e1 SMART
AT_hook 1389 1401 4.21e0 SMART
Pfam:WHIM3 1424 1462 5.5e-19 PFAM
PHD 1663 1709 1.47e-11 SMART
low complexity region 1742 1754 N/A INTRINSIC
BROMO 1774 1882 7.71e-41 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220049
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (65/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,342,651 (GRCm39) L943P probably damaging Het
Abcg5 C A 17: 84,979,719 (GRCm39) V214F probably damaging Het
Ang T A 14: 51,338,886 (GRCm39) probably benign Het
Arfgef3 A G 10: 18,523,546 (GRCm39) probably null Het
Arhgef4 A G 1: 34,846,696 (GRCm39) probably benign Het
Atp11b T C 3: 35,866,428 (GRCm39) I409T probably damaging Het
Atp9a G A 2: 168,495,454 (GRCm39) A660V probably damaging Het
Avpr1a A G 10: 122,285,376 (GRCm39) T223A probably benign Het
Bmp2k T C 5: 97,211,353 (GRCm39) M507T unknown Het
Cep295 A G 9: 15,243,828 (GRCm39) S287P probably damaging Het
Chrna7 T A 7: 62,798,349 (GRCm39) D111V probably damaging Het
Clxn A T 16: 14,734,836 (GRCm39) I69F probably benign Het
Cnr2 A G 4: 135,644,747 (GRCm39) D275G probably benign Het
Col28a1 T A 6: 8,158,144 (GRCm39) M305L probably benign Het
Cpb1 T A 3: 20,317,906 (GRCm39) D206V probably damaging Het
Cyp2c50 T C 19: 40,101,944 (GRCm39) L453S probably damaging Het
Ddx52 T G 11: 83,840,508 (GRCm39) S284A probably benign Het
Eif2ak4 G T 2: 118,219,332 (GRCm39) R48L probably benign Het
Esrrb A G 12: 86,561,175 (GRCm39) E303G possibly damaging Het
Fbxo21 A G 5: 118,114,933 (GRCm39) E23G probably benign Het
Fcamr T C 1: 130,739,263 (GRCm39) S188P probably damaging Het
Fer1l6 C A 15: 58,462,399 (GRCm39) S818* probably null Het
Fn1 T C 1: 71,687,218 (GRCm39) D213G probably damaging Het
Gcg A G 2: 62,306,069 (GRCm39) I176T possibly damaging Het
Glis1 T A 4: 107,425,279 (GRCm39) S109T probably benign Het
Gm266 T C 12: 111,452,173 (GRCm39) D11G probably benign Het
Gm5070 C A 3: 95,317,965 (GRCm39) noncoding transcript Het
Gm8444 T C 15: 81,727,654 (GRCm39) probably benign Het
Golga4 A G 9: 118,356,198 (GRCm39) T117A probably damaging Het
Gpr132 G A 12: 112,816,416 (GRCm39) R137C probably damaging Het
Gvin-ps5 T A 7: 105,929,430 (GRCm39) noncoding transcript Het
Herc2 T A 7: 55,880,667 (GRCm39) F4766L probably damaging Het
Inhbc C A 10: 127,193,411 (GRCm39) E202* probably null Het
Kcnu1 C T 8: 26,339,742 (GRCm39) T20I possibly damaging Het
Klhdc3 T C 17: 46,988,391 (GRCm39) D161G probably damaging Het
Krt84 T A 15: 101,438,647 (GRCm39) K280M probably damaging Het
Krtap9-5 T A 11: 99,839,895 (GRCm39) C199S unknown Het
Mrgprb3 A G 7: 48,293,110 (GRCm39) V147A probably benign Het
Ndufs6 A T 13: 73,475,553 (GRCm39) F48L probably damaging Het
Obscn T C 11: 58,970,476 (GRCm39) S2586G probably damaging Het
Or10n1 A G 9: 39,525,759 (GRCm39) R299G probably benign Het
Or13c7b C A 4: 43,820,912 (GRCm39) V150L probably benign Het
Or51a25 C T 7: 102,373,409 (GRCm39) R96H possibly damaging Het
Osbpl6 A G 2: 76,414,857 (GRCm39) D416G probably damaging Het
Pdilt A G 7: 119,099,766 (GRCm39) probably benign Het
Phf12 C A 11: 77,913,252 (GRCm39) D401E probably benign Het
Pla2r1 C T 2: 60,259,065 (GRCm39) V1108M possibly damaging Het
Prim2 A G 1: 33,519,487 (GRCm39) probably benign Het
Ptpn6 T C 6: 124,701,947 (GRCm39) H406R probably benign Het
Qpctl G T 7: 18,877,132 (GRCm39) H329N probably damaging Het
Ripk3 T A 14: 56,022,755 (GRCm39) N390Y probably damaging Het
Rnase1 A G 14: 51,382,907 (GRCm39) V149A probably benign Het
Rtn3 T A 19: 7,434,192 (GRCm39) D581V probably damaging Het
Slamf1 A G 1: 171,602,630 (GRCm39) Y119C probably damaging Het
Slc25a34 A G 4: 141,350,973 (GRCm39) M12T probably benign Het
Tmem38a A G 8: 73,333,944 (GRCm39) Y141C probably damaging Het
Tnr C T 1: 159,714,500 (GRCm39) T793I possibly damaging Het
Tns3 T C 11: 8,443,211 (GRCm39) D384G probably damaging Het
Vmn2r116 T A 17: 23,606,281 (GRCm39) Y398N probably damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Other mutations in Atp5f1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02316:Atp5f1b APN 10 127,920,178 (GRCm39) missense probably benign 0.42
IGL02819:Atp5f1b APN 10 127,919,821 (GRCm39) missense probably damaging 0.99
R0308:Atp5f1b UTSW 10 127,921,908 (GRCm39) missense probably benign 0.11
R0496:Atp5f1b UTSW 10 127,922,043 (GRCm39) missense possibly damaging 0.60
R1052:Atp5f1b UTSW 10 127,925,921 (GRCm39) missense probably damaging 1.00
R1418:Atp5f1b UTSW 10 127,919,167 (GRCm39) start gained probably benign
R1764:Atp5f1b UTSW 10 127,919,949 (GRCm39) splice site probably benign
R4968:Atp5f1b UTSW 10 127,919,856 (GRCm39) missense probably damaging 1.00
R5092:Atp5f1b UTSW 10 127,919,854 (GRCm39) missense probably benign 0.09
R7296:Atp5f1b UTSW 10 127,921,391 (GRCm39) missense probably benign 0.18
R8008:Atp5f1b UTSW 10 127,919,277 (GRCm39) missense unknown
R8238:Atp5f1b UTSW 10 127,921,019 (GRCm39) missense possibly damaging 0.75
R8711:Atp5f1b UTSW 10 127,921,369 (GRCm39) missense probably damaging 1.00
R8932:Atp5f1b UTSW 10 127,924,850 (GRCm39) missense probably benign 0.04
R9039:Atp5f1b UTSW 10 127,919,767 (GRCm39) missense probably benign
X0057:Atp5f1b UTSW 10 127,925,983 (GRCm39) missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TGGATGCTACCACTGTGTTG -3'
(R):5'- GCCATCAACCAAGGTTAGTGTC -3'

Sequencing Primer
(F):5'- TACCACTGTGTTGTCCCGGG -3'
(R):5'- CTGGGATTAAAGATGTGCACCACTAC -3'
Posted On 2016-12-15